Incidental Mutation 'IGL00502:Nostrin'
ID7172
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nostrin
Ensembl Gene ENSMUSG00000034738
Gene Namenitric oxide synthase trafficker
SynonymsmDaIP2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.277) question?
Stock #IGL00502
Quality Score
Status
Chromosome2
Chromosomal Location69135800-69189330 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 69183992 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 431 (S431P)
Ref Sequence ENSEMBL: ENSMUSP00000036923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041865]
Predicted Effect probably benign
Transcript: ENSMUST00000041865
AA Change: S431P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036923
Gene: ENSMUSG00000034738
AA Change: S431P

DomainStartEndE-ValueType
Pfam:FCH 13 88 4.9e-12 PFAM
low complexity region 135 146 N/A INTRINSIC
coiled coil region 160 190 N/A INTRINSIC
coiled coil region 305 334 N/A INTRINSIC
low complexity region 419 439 N/A INTRINSIC
SH3 441 496 8.89e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141276
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothelial NO synthase (ENOS; MIM 163729), and triggers the translocation of ENOS from the plasma membrane to vesicle-like subcellular structures, thereby attenuating ENOS-dependent NO production.[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired retinal vascular angiogenesis, endothelial cell proliferation, endothelial cell migration and induced neovascularization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A T 15: 94,403,397 I82N probably damaging Het
Ampd2 A T 3: 108,077,396 L422H probably damaging Het
Angptl2 T A 2: 33,228,394 V60E probably damaging Het
Ano3 G A 2: 110,771,050 probably benign Het
Arhgap40 A G 2: 158,531,158 D112G probably benign Het
Bcorl1 T G X: 48,406,042 V1730G probably damaging Het
Btrc A T 19: 45,527,265 E553V probably damaging Het
Cacna1b A T 2: 24,651,200 Y1323* probably null Het
Ccdc146 A G 5: 21,301,422 C674R possibly damaging Het
Ccdc170 A G 10: 4,546,836 D458G probably damaging Het
Cfap57 T A 4: 118,581,001 M898L probably benign Het
Crybg1 C T 10: 43,958,313 V1961I probably damaging Het
Dsp T C 13: 38,197,846 S2257P probably damaging Het
Dytn A G 1: 63,678,840 V12A probably benign Het
Foxk2 A G 11: 121,297,099 probably benign Het
Gfi1b G A 2: 28,614,785 Q70* probably null Het
Gm20388 T C 8: 124,328,098 M204T probably damaging Het
Gsdmc T C 15: 63,804,421 T58A probably benign Het
Hikeshi G A 7: 89,923,610 T26I probably benign Het
Mpdz T C 4: 81,369,723 D433G probably damaging Het
Ndufb5 T A 3: 32,744,899 V55D probably damaging Het
Papd5 C T 8: 88,252,258 Q63* probably null Het
Pdcd1lg2 A T 19: 29,446,062 T169S possibly damaging Het
Plekha7 A T 7: 116,135,184 M1006K probably damaging Het
Rgs6 A T 12: 83,051,323 I94F probably benign Het
Rims2 A T 15: 39,506,984 D938V probably damaging Het
Slc4a8 A G 15: 100,807,438 T842A possibly damaging Het
Spata21 C A 4: 141,111,364 probably null Het
Stk32a C T 18: 43,310,445 T229I possibly damaging Het
Trim33 C T 3: 103,330,182 P185S probably benign Het
Tspoap1 A G 11: 87,777,821 probably null Het
Vcan A G 13: 89,692,319 V742A probably benign Het
Vrtn A T 12: 84,649,063 I196F probably benign Het
Wasf1 A T 10: 40,920,297 I8F probably damaging Het
Ythdc2 A G 18: 44,847,812 I491M probably damaging Het
Zfp292 T C 4: 34,809,775 T1095A possibly damaging Het
Other mutations in Nostrin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Nostrin APN 2 69185554 splice site probably benign
IGL00767:Nostrin APN 2 69175775 missense probably benign 0.00
IGL00846:Nostrin APN 2 69185555 splice site probably benign
IGL00912:Nostrin APN 2 69182819 splice site probably benign
IGL02123:Nostrin APN 2 69156109 splice site probably benign
IGL02213:Nostrin APN 2 69183918 missense probably benign 0.25
R0295:Nostrin UTSW 2 69179416 missense probably benign 0.19
R0543:Nostrin UTSW 2 69189131 makesense probably null
R1384:Nostrin UTSW 2 69189062 missense probably benign 0.05
R1501:Nostrin UTSW 2 69158785 missense probably damaging 1.00
R1632:Nostrin UTSW 2 69175734 missense probably benign 0.21
R2012:Nostrin UTSW 2 69144767 splice site probably null
R2140:Nostrin UTSW 2 69166003 missense probably damaging 0.98
R2159:Nostrin UTSW 2 69180922 splice site probably null
R2329:Nostrin UTSW 2 69161094 missense probably damaging 1.00
R2890:Nostrin UTSW 2 69180905 missense probably benign
R4469:Nostrin UTSW 2 69175717 missense probably damaging 0.99
R4607:Nostrin UTSW 2 69183899 missense possibly damaging 0.89
R4608:Nostrin UTSW 2 69183899 missense possibly damaging 0.89
R4684:Nostrin UTSW 2 69183924 missense probably benign 0.00
R4719:Nostrin UTSW 2 69144812 nonsense probably null
R4846:Nostrin UTSW 2 69175579 missense probably damaging 1.00
R4911:Nostrin UTSW 2 69161142 missense possibly damaging 0.87
R4987:Nostrin UTSW 2 69156431 missense probably benign
R5054:Nostrin UTSW 2 69175713 missense possibly damaging 0.82
R5177:Nostrin UTSW 2 69175754 missense possibly damaging 0.83
R6561:Nostrin UTSW 2 69180857 missense probably benign
R6785:Nostrin UTSW 2 69183927 missense probably benign 0.01
R6789:Nostrin UTSW 2 69175512 missense probably benign
R7453:Nostrin UTSW 2 69183896 missense possibly damaging 0.95
R7465:Nostrin UTSW 2 69185507 missense possibly damaging 0.93
R7570:Nostrin UTSW 2 69175806 missense probably damaging 0.98
R7761:Nostrin UTSW 2 69161122 missense possibly damaging 0.88
R7802:Nostrin UTSW 2 69189012 missense probably benign 0.18
X0021:Nostrin UTSW 2 69144792 missense probably damaging 1.00
Posted On2012-04-20